Linked Data
dbSNP Id:
rs1567646070
gnomAD v2:
17-4535071-C-T
gnomAD v3:
17-4631776-C-T
gnomAD v4:
17-4631776-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4631776C>T , CM000679.2:g.4631776C>T | GRCh38 |
| NC_000017.10:g.4535071C>T , CM000679.1:g.4535071C>T | GRCh37 |
| NC_000017.9:g.4481820C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293761.8:c.1813G>A MANE Select | ENSP00000293761.3:p.Ala605Thr | |
| ENST00000570836.6:c.1813G>A | ENSP00000458832.1:p.Ala605Thr | |
| ENST00000293761.7:c.1813G>A | ENSP00000293761.3:p.Ala605Thr | |
| ENST00000570836.5:c.1813G>A | ENSP00000458832.1:p.Ala605Thr | |
| ENST00000574640.1:c.1696G>A | ENSP00000460483.1:p.Ala566Thr | |
| NM_001140.3:c.1813G>A | NP_001131.3:p.Ala605Thr | |
| NM_001140.4:c.1813G>A | NP_001131.3:p.Ala605Thr | |
| NM_001140.5:c.1813G>A MANE Select | NP_001131.3:p.Ala605Thr |